nsv3167246
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,198,940
- Description:qual score = 98
- Publication(s):Exome Aggregation Consortium CNVs
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 6630 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 6645 SVs from 110 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3167246 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 45,479,870 | 47,678,809 |
| nsv3167246 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 44,108,510 | 46,307,553 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14230900 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14230900 | Remapped | Good | NC_000020.11:g.(?_ 45479870)_(4767880 9_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 45,479,870 | 47,678,809 |
| nssv14230900 | Submitted genomic | NC_000020.10:g.(?_ 44108510)_(4630755 3_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 44,108,510 | 46,307,553 |